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Williams v. Athena Motion to Dismiss Hearing—SC Supreme Court May Be Asked to Decide Whether a Diagnostic Laboratory Qualifies as a Healthcare Provider

Foreword by John Conley 

Back on May 31, 2016, Contributing Editor Jennifer Wagner wrote a lengthy report on the newly filed case of Williams v. Quest Diagnostics, et al. As Jen recounted, plaintiff Amy Williams sued Athena Diagnostics and its corporate parent, Quest Diagnostics, alleging that Athena negligently misclassified a genetic variant it identified in testing the DNA of her late son. Ms. Williams claims that the misclassification caused the boy’s doctors to prescribe a potentially dangerous course of treatment that ultimately led to his death. The case was originally filed in a South Carolina state court and was then removed to federal court by the defendants, which they were able to do because the parties are citizens of different states.

As Jen also reported, the defendants responded by filing a motion to dismiss the complaint. Their principal argument was that the case is actually a medical malpractice case, rather than an ordinary negligence, and as such is barred by the applicable statute of limitations. Federal Judge Margaret B. Seymour conducted a lengthy hearing on that motion on January 4, 2017. There has been no ruling as yet, nor any timetable for one.

Laurel Coons, a Duke University Ph.D. student, is working on the case with GLR Contributor Robert Cook-Deegan, M.D., formerly of Duke and now of Arizona State University, who has filed an expert affidavit on behalf of Ms. Williams. Laurel attended the hearing, and she and I have reviewed the transcript. Laurel’s report and analysis of what happened follows. I add a few legal comments at the end of Laurel’s post.

Williams v. Athena Motion to Dismiss Hearing—SC Supreme Court May Be Asked to Decide Whether a Diagnostic Laboratory Qualifies as a Healthcare Provider

By Laurel Coons

Laurel A. Coons is a Ph.D. candidate at Duke University. She received her B.S. in biology and M.S. in biotechnology from the University of South Carolina.

The South Carolina Supreme Court may be asked to certify whether a diagnostic lab should be classified as a health care provider under state law. South Carolina federal Judge Margaret Seymour appeared to be contemplating this during a January 4 hearing on the defendant’s motion to dismiss in the Williams v. Quest Diagnostics, Inc. lawsuit. The answer will determine whether this lawsuit will move toward a jury trial.

The Complaint – March 2016
Christian Millare was born in August 2005 and beginning at the age of 4 months started having seizures. His doctors treated his seizures with sodium channel inhibitor medications: oxcarbazepine (Trileptal®), carbamazepine (Tegretol®), and lamotrigine (Lamictal®). These are standard treatments for epileptic seizures not caused by Dravet syndrome (SMEI). In January 2007, Christian’s DNA was sent to Athena Diagnostics (a subsidiary of Quest starting in 2011) for a DNA analysis of the SCN1A gene—that is, the detection and diagnosis of any DNA variants within the SCN1A gene. DNA mutations in SCN1A are associated with a spectrum of epilepsy phenotypes, the most severe being Dravet syndrome. For patients with SCN1A mutations, sodium channel inhibitor medications are to be avoided because they exacerbate the seizures. The DNA sequencing of Christian’s DNA took place in May 2007. The results were sent to the ordering physician, John Shoffner, on June 30, 2007. This report indicated that Christian possessed a DNA variant in the SCN1A gene that was classified as a “variant of unknown significance” or VUS (i.e., not specifically known to be either pathogenic or benign). Relying on the information in this report (which did not identify any DNA variants as being pathogenic or warn of any treatments to avoid), Christian’s doctors continued to treat him with increasing doses of multiple sodium channel inhibitor medications. Athena did not issue a copy of the June 2007 report directly to the patient or the patient’s family. Christian’s condition worsened, even as doses of the sodium channel inhibitor medications were increased in attempts to manage his seizures. Christian suffered a severe and ultimately fatal seizure resulting in his death on January 5, 2008.

His mother, Amy Williams, sued Athena and Quest, its parent company, in a South Carolina state court in March 2016. The defendants were able to “remove” the case to the South Carolina federal court because the plaintiff and defendants are citizens of different states. Nonetheless, South Carolina state law will continue to apply.

The complaint alleges that Athena was negligent and breached the applicable standard of care by (1) failing to provide a genetic confirmation that Christian had Dravet syndrome and (2) failing to adhere to its own DNA variant classification criteria. The alleged negligent misclassification of Christian’s DNA variant originates from the fact that in 2007, Christian’s DNA variant had been reported, studied, and known in a patient with Dravet syndrome. Specifically, a genotype-phenotype association between his variant and Dravet syndrome had been established in two clinical publications, Berkovic et al., 2006, and Harkin et al., 2007. Per Athena’s DNA variant classification criteria as defined in the June 2007 report, the requirement for deeming a variant to be a “known disease-associated mutation” was whether it was reported in the literature to be associated with the disease. Thus, the plaintiff alleges, the existence of Berkovic et al., 2006 and Harkin et al., 2007 made Athena’s classification of Christian’s variant as VUS (i.e., “has not been correlated with clinical presentation and/or pathology in the current literature”) demonstrably false. According to the June 2007 report, “the results of this analysis cannot be definitively interpreted due to the absence of published studies correlating these variant(s) with clinical presentation and/or pathology.”

Christian’s June 2007 report was signed off by Sat Dev Batish, chief director of genetics at Athena, and also an author of the Harkin et al., 2007 publication. According to the complaint, Christian’s DNA variant was cited as an SCN1A DNA mutation that “disrupts the functioning of an assembled ion channel so as to produce an epilepsy phenotype” in a patent for SCN1A testing. This patent originated from the laboratory that produced the Berkovic et al., 2006 and Harkin et al., 2007 publications—the same laboratory that also licensed use of the patent for SCN1A testing to Athena in 2004. Thus, the information used to gain patent rights of SCN1A testing included a citation of Christian’s variant causing an epilepsy phenotype. Finally, the June 2007 report lists a manuscript that was published in 2005 as “pending,” suggesting that Athena’s integration of the biomedical literature into their DNA variant database was at least two years behind.

Hearing on Defendant’s Motion to Dismiss – January 4, 2017
During the oral argument on the defendant’s motion to dismiss held on January 4, 2017, Quest/Athena argued that Williams’s allegations of negligence are in fact allegations of medical malpractice, and, as a result, are time-barred. In South Carolina, plaintiffs have three years to bring a medical malpractice suit against a licensed healthcare provider (who has a direct fiduciary duty to a patient) from the time they discover they were harmed, but they lose the right to sue entirely after six years. This absolute six-year bar is called a statute of repose. Williams’s lawyer, however, argued that her claims allege not medical malpractice but ordinary, common law negligence, which is not subject to the statute of repose. The specific negligence alleged is Athena’s failure to reference (in the June 2007 report) the published studies associating Christian’s specific mutation and SMEI in another patient (Berkovic et al., 2006 and Harkin et al., 2007). Williams further alleges that Athena’s failure to abide by its DNA variant classification criteria, as defined in the June 2007 report, constituted a breach of general laboratory duty, which subsequently led to Christian’s physician failing to discontinue potentially harmful medications. As noted above, Quest/Athena’s own standard for deeming a DNA variant to be pathogenic, or disease-causing, as defined in the June 2007 report, was whether that DNA variant was reported in the literature to be associated with the disease in question.

At the hearing, Williams’s lawyer argued that these are acts of ordinary negligence, with a three-year statute of limitations that didn’t start to run until she discovered the negligence. Williams claims she was unaware of the June 2007 report until September 2014, at which time the June 2007 report was requested and received from Athena. During this 2014 interaction with Quest/Athena, Williams learned that the variant had now been deemed disease-causing and the report would be revised. Quest/Athena subsequently issued a revised report with the new classification of “known disease-associated mutation” on January 30, 2015. Williams contends that she had no opportunity to discover the defendants’ error until she had both the June 2007 and January 2015 reports in hand. Quest/Athena argued that it doesn’t matter whether or not the plaintiff herself knew or did not know about the 2007 report, because “the actual knowledge is imputed to the principal by virtue of [her] agent’s notice”—the agent in this case being the physician, John Shoffner, who ordered the test and received the June 2007 report. Williams also contends that Athena’s failure to notify anyone of the reclassification of Christian’s DNA variant prior to January 30, 2015 was a daily, recurring failure to comply with CLIA regulations, and thus represents a continuous and ongoing injury, each instance allowing for a new claim and thus starting a new clock.

How the judge decides this matter depends on whether Quest/Athena, a CLIA-certified clinical laboratory and “one of the leading genetics testing laboratories in the world,” is a licensed healthcare provider under South Carolina law. Specifically, can a lab that doesn’t deal directly with a patient have a professional, fiduciary relationship with the patient triggering a malpractice standard? Quest/Athena further explained that they “weren’t permitted to do so [communicate individually with patients],” and that consequently “it would have been completely inappropriate for Athena to communicate directly with any patient.”

At the hearing, Judge Seymour asked both the plaintiff and the defendants whether the question of malpractice versus ordinary negligence should be certified to the South Carolina Supreme Court. Certification is a procedure whereby a federal court may pose an undecided question of state law to a state supreme court. Since South Carolina state law will govern this case, the federal judge would then have to follow the South Carolina Supreme Court’s answer.

Other Issues
a) Initial Report – June 2007: Variant of Unknown Significance
According to the complaint, Williams believes that because a genotype-phenotype association between Christian’s DNA variant and Dravet syndrome had been established in two clinical publications (Berkovic et al., 2006 and Harkin et al., 2007), the June 2007 report should have classified Christian’s mutation as a “known disease-associated mutation” rather than a VUS. The existence of these two clinical publications would apparently satisfy the requirements of a “known disease-associated mutation” per Athena’s own DNA variant classification criteria as defined in the June 2007 report. (The requirement for deeming a variant to be disease-causing was whether it was reported in the literature to be associated with the disease.) Williams further alleges that classifying Christian’s DNA variant as a VUS in 2007 was incorrect per these same DNA variant classification criteria: “Variants of unknown significance are DNA sequence variants that are detected reproducibly, but have not been correlated with clinical presentation and/or pathology in the current literature.”

At the hearing Athena’s lawyer argued that “the patient that is identified (in Berkovic et al., 2006 and Harkin et al., 2007) as having the same genetic mutation” had, in both papers, a de novo” mutation. That is, the mutation was not inherited but instead arose during cell division of egg or sperm or early embryonic development. The defense further contended that parental testing is required to determine whether a mutation is de novo, and thus “within the classification that was in those two published reports because the patients in those reports had a de novo mutation.” According to this argument, Athena has no way to know “whether or not this serious disease is present in this mutation unless we test the parents.” The lawyer’s point was that Athena could not have known whether Christian’s mutation was de novo—and thus the same as the mutation in the published papers—because his parent did not undergo genetic testing. As noted above, however, Williams contends that, because she was unaware of the June 2007 report, she was unaware that testing of the biological parents (de novo determination) was recommended.

Athena’s lawyer pointed to patient #15 on Supplement Table 2 of Harkin et al., 2007 (a female who possessed the same mutation as Christian whose mutation was confirmed to be de novo) to illustrate that a conclusive diagnosis could be reached only by additional parental testing and de novo determination. It is intriguing that the next patient listed (#16), along with thirteen other patients on this table, had the same classification as patient number #15 but de novo status was not determined. According to Harkin et al., 2007, “in cases with missense changes, where DNA from parents is unavailable…the case for pathogenicity rests on circumstantial evidence provided by evolutionary conservation of protein structure.” Further, if parental testing was never done on Christian because his parents were unaware of this recommendation, and de novo determination was required for the DNA variant to be classified as a “known disease-associated mutation,” it is hard to understand how and why his DNA variant was reclassified to a “known disease-association mutation” sometime after the June 2007 report and before September 29, 2014.

b) Revised Report – January 2015: Known Disease-Associated Mutation
During the hearing, Judge Seymour seemed particularly interested in understanding the origin and details of the revised January 2015 report. Although the January 2015 report reclassified Christian’s variant from VUS to disease-causing, it did not list any new references or data supporting that reclassification, it did not list the Berkovic et al., 2006 or Harkin et al., 2007 papers, nor did it identify the date when the reclassification occurred or who corrected the misclassification.

Judge Seymour wanted to know why the 2007 report was revised. Athena’s lawyer said that “there was an update to the classification of the mutation in Athena’s database,” and that “as soon as the information became known that it was applicable to this situation, the update was provided to the requesting individual.” Athena’s lawyer further explained,

“the plaintiff’s genetic counselor called Athena in 2014 and asked Athena to re-look up the variant. Athena did so and saw that the variant, the mutation, had been reclassified since then in its database, and based on additional information that was available since June of 2007—remember, this is an incredibly fast-paced field—more than seven years later when the variant was looked up in the database to see how it’s classified. Classifications of variants do change based on new information, and that is what happened here. It’s not a reclassification based on an error. It was just based on new information” [Of note, according to the complaint, Athena was contacted in 2014 to in order to obtain the 2007 report for the first time, not to “re-look up” a variant.]

Athena’s lawyer did not explain what “new information” was obtained between June 2007 and September 2014 that resulted in the reclassification of Christian’s DNA variant (1237T>A, Y413N) from a “variant of unknown significance” to a “known disease-associated mutation.” According to the January 2015 report, “analysis of this individual’s SCN1A gene identified a DNA sequence variant that has been reported in the literature to be associated with SMEI or SMEB, the severe phenotypes associated with SCN1A mutations.”

Event Timeline
Event timeline was prepared and presented by Laurel Coons and Robert Cook-Deegan for the Committee on Science, Technology and Law of the National Academies of Science, Engineering and Medicine for their session on Diagnostics Labs and Legal Liability on October 17, 2016.

Afterword by John Conley

I appreciate Laurel’s careful and accurate reporting, and I think her analytical points are all well taken. I’d add just a few points from a legal perspective:

1. Judge Seymour did an excellent job in conducting the hearing. She was very well prepared and had an impressive understanding of the medical and scientific issues. She pressed both sides on their respective vulnerabilities, and both lawyers were sometimes wobbly in responding. That’s not a criticism of them, but a reflection of the fact that—as Laurel points out—both sides face some hard issues. In any event, if the case goes forward from here, all indications are that Judge Seymour is the right judge to manage it, with all its complexities.

2. Don’t try to predict the outcome from the judge’s questions. Judge Seymour was just doing her job, very effectively: forcing both sides to deal squarely with their hardest issues. To me, she seemed absolutely evenhanded in her questioning. I see no basis for predicting how she’s leaning.

3. What happens from here? This is complicated. An initial point to keep in mind is that (under a 1937 U.S. Supreme Court case) the federal judge must apply South Carolina state law—not federal law—to all of the key issues in this case. So, a big part of Judge Seymour’s job here is to determine what South Carolina law says about those issues.
Let’s break down the possibilities:

(a)  Judge Seymour decides on her own that the case is or is not a malpractice case and then applies the applicable statute of limitations. If she decides that it is a malpractice case, then the likely outcome is that it will have to be dismissed under the six-year statute of repose that Laurel describes. The plaintiff could then appeal to the U.S. Court of Appeals for the Fourth Circuit, which covers Maryland, Virginia, West Virginia, and North and South Carolina. If Judge Seymour decides it isn’t a malpractice case, she would apply the ordinary negligence statute, which doesn’t have a statute of repose, and the plaintiff might well (although not necessarily) avoid dismissal. If that happens, the parties will begin discovery and the case will begin moving slowly toward trial.

(b)  In this scenario, Judge Seymour doesn’t decide the malpractice versus ordinary negligence issue herself, but certifies that question (as Laurel explains) to the South Carolina Supreme Court for an answer. If she does that, and the South Carolina court accepts the question, that would add a minimum of several months to the process. Depending on the South Carolina court’s answer (which Judge Seymour would be bound to follow), the case would unfold as described in paragraph (a).

4. Regardless of which way the decision goes, what will be the legal impact? Surprisingly, perhaps, the strictly legal significance of the case will be limited. A number of scientific and medical people have suggested to me that, because the case is in federal court, it will have national impact. That’s not true, at least from a legal perspective. Again, let’s review the possibilities.

If the South Carolina Supreme Court decides the malpractice versus negligence question (or any other question in the case that may be certified to it), its answer will be binding on all South Carolina state courts, and, indirectly, on other courts, state or federal, that have to decide that same question under South Carolina law (not many, I’d think).

Any decision made by Judge Seymour on this or any other issue in the case won’t be binding on any other court. Any rulings made on appeal by the Fourth Circuit will be binding on all federal courts within the circuit’s five states. But here again, those rulings would apply only in federal cases that happened to be deciding the very same questions under South Carolina law. A final point is that this case is very unlikely to be taken by the U.S. Supreme Court because it does not seem to present a significant question of federal or constitutional law.

This all adds up to minimal significance. Note, however, that I keep stressing that I’m referring to strictly legal significance. It could be highly significant in other respects. First, if Judge Seymour’s rulings on all the issues the case presents seem well reasoned and persuasive, then other courts facing similar issues might choose to follow her. This happens often, with the first case on a novel problem becoming the model for later decisions elsewhere. So, if Judge Seymour ultimately rules on, for example, the respective standards of care for labs, medical geneticists, and primary care physicians in this factual context, judges in later cases will look carefully at her reasoning and may follow it, even though they won’t have to.

In addition, as legislators and regulators think about how to regulate genomic testing, they will be looking for any precedent that might provide guidance. If this case gets past the statute of limitations issue and Judge Seymour issues rulings on substantive issues, lawmakers (or their staffs) will look closely at what she says.

5. This leads to my final point: a message for the medical and scientific communities. Everyone involved in developing a legal framework for genomic testing—judges, legislators at the state and federal levels, and state and federal regulators—is and will be looking for guidance. Help them out! It would be very useful for interested expert bodies—the Association for Molecular Pathology, for instance—to promulgate guidelines for resolving such critical questions as the respective responsibilities of primary care physicians, specialists, and testing labs in situations such as that presented by the Williams case. If you do, I can almost guarantee that the relevant legal constituencies will take your recommendation very seriously. But if judges, legislators, and regulators are left to make it all up on their own, you probably won’t like the outcome. And act now, not later. Plaintiffs’ lawyers are given to herd behavior, so the Williams case may be only the first.

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Filed under General Interest, Genetic Testing/Screening, Genomics & Medicine, Legal & Regulatory, Pending Litigation

New Federal Trade Secret Act and Its Impact on Life Sciences

918333_u_s__capitol_buildingOn May 11, 2016, a new federal trade secrets law called the Defend Trade Secrets Act (DTSA) took effect. Its primary impact is to allow the victims of trade secret misappropriation to sue in federal court. It also provides some new civil remedies that exceed what is usually available under state law. The DTSA will be slotted into the U.S. Criminal Code (chapter 90 of Title 18), which already makes industrial espionage and trade secret theft a federal crime. In terms of what companies have to do to comply, the answer is almost nothing—the sole exception being a change in future employee contracts that is discussed below. In this post I’ll describe and analyze the new law and offer some thoughts about its potential impact on the life sciences industry.

Until now, civil trade secret protection has been entirely a matter of state law. The law is very consistent from state to state, as 47 states have enacted the Uniform Trade Secrets Act (UTSA). The exceptions are New York, Massachusetts, and North Carolina, though the North Carolina statute is generally similar to UTSA. Enforcement actions must usually be brought in state court, though federal courts can take jurisdiction if the plaintiff and defendant are citizens of different states. Even then, however, the federal court must apply state law in deciding the case.
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Filed under Direct-to-Consumer Services, Genetic Testing/Screening, Patent Litigation, Patents & IP

FDA Issues Guidance for Next Generation Sequencing

On July 8, 2016, the FDA issued draft guidance on the subject of next generation sequencing (NGS) activities: (1) “Uses of Standards in FDA Regulatory Oversight of Next Generation Sequencing (NGS)-Based In Vitro Diagnostics (IVDs) Used for Diagnosing Germline Diseases” and (2) “Use of Public Human Genetic Variant Databases to Support Clinical Validity for Next Generation Sequencing (NGS)-Based In Vitro Diagnostics.” The first focuses on the FDA’s proposed use of standards to help establish the safety and efficacy of NGS-based tests. The second focuses on the importance of high quality and publicly accessible databases to provide robust scientific evidence for understanding genomic variation, to inform decision-making, and to assess the clinical validity of NGS-based tests. Guidance is not a formal regulation, but rather an agency’s statement about how it will interpret or apply a regulation in the future. Draft guidance is a proposed policy that means the agency is formulating a position, whereas a final guidance is a document that represents what the agency has settled on as its interpretive policy. In theory, guidance is intended to serve as additional instructions for complying with rules and not intended to serve as the rules themselves.

The premise underlying the draft guidance is the controversial and—as yet—legally untested assertion that genomic analyses of all kinds are “medical devices” that Congress has, by statute, authorized the FDA to regulate. If they are, then the FDA would have the power to bring them under its current risk-based classification scheme for medical devices or to create a new scheme for them. If they are not medical devices, then the effort to regulate them might exceed the FDA’s statutory authority and conceivably amount to an unconstitutional regulatory overreach. Both draft guidance documents avoid any mention of the overarching debate, a subject covered extensively on Genomics Law Report, surrounding FDA oversight of all laboratory developed tests (LDTs) and in vitro diagnostic multivariate index assays (IVDMIAs). As others have noted, it is impossible to consider these new pieces of draft guidance outside of that context. Nonetheless, even the FDA asserts (via Twitter and elsewhere) that the two new drafts are intended to facilitate the Precision Medicine Initiative (PMI) and are distinct from the agency’s expressed intention to regulate LDTs. These pieces of draft guidance also give a policy-based reason for pause, as they could be another example of governance by guidance, a highly problematic approach as highlighted recently by John Conley with regard to the HIPAA right to access lab data and results.
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Filed under Badges, Direct-to-Consumer Services, FDA LDT Regulation, General Interest, Genetic Testing/Screening, Genomic Sequencing, Genomics & Medicine, Genomics & Society, Legal & Regulatory, Pending Regulation

Cleveland Clinic Pathologist Urges Contract Solution for Return of Genomic Data

The Cleveland Clinic’s Roger Klein responds to my previous GLR post:

Roger-Klein-MD-JDThe Office of Civil Rights’ interpretation of the requirements of 45 CFR § 164 could pose problems for clinical laboratories and the professionals who practice within them. Although the issue of providing benign variants for a single gene, at least prospectively, would be straightforward, a broad definition of the designated medical record set could result in considerable complexity when one considers large-scale sequencing. Some excluded data can be of variable reliability, may be prospectively filtered by software, or may otherwise be omitted from the patient report because of professional interpretation and judgment. One can legitimately argue that this interpretation and judgment, as reflected in the patient report, should serve as the gateway to the official medical record.
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Filed under Genetic Testing/Screening, Genomic Sequencing, Genomics & Medicine, Genomics & Society

UNC Geneticist Comments on Testing Laboratories’ Duty to Return Genomic Data to Patients

UNC’s Karen Weck responds to my previous GLR post:

I agree in principle that patients have the right to access their genomic data; however, in practice it is much more complicated (as things often are). Giving a patient his/her raw sequencing data would be meaningless – it is the interpretation of the clinical significance of sequence data that is important when reporting results. This latter requires the expertise of molecular genetic laboratorians and clinical geneticists. We do not return all genomic sequence variants to individuals in exome sequencing, for example when we determine that they are unlikely to be contributory to their disease or medical health. It is important to those of us doing this that we retain the ability to use our professional judgement to determine what should be reported to patients as medically relevant, primarily so as not to dilute important medical information with irrelevant information.

Karen E. Weck, MD
Professor of Pathology & Laboratory Medicine and Genetics
Director, Molecular Genetics
University of North Carolina at Chapel Hill

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Filed under Genetic Testing/Screening, Genomic Sequencing, Genomics & Society

Litigating the Accountability of Clinical Genomics Laboratories

Seeking Accountability from Clinical Genomics Laboratories

A wrongful death case pending in a federal court in Columbia, SC—Williams v. Quest Diagnostics, Inc., et al.—demonstrates the very high stakes involved with clinical genomics testing. The case also underscores the ongoing struggle to (1) establish accountability when mistakes happen and (2) establish a reasonable and effective level of governmental oversight for the laboratories performing such tests. The case could have dramatic implications for the future practice of genomic medicine, and regardless of how this specific case ultimately plays out in the courtroom, the allegations should serve as a serious wake up call to those involved in genomics for clinical purposes in any way.
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Filed under General Interest, Genetic Testing/Screening, Genomics & Medicine, Legal & Regulatory, Pending Litigation

Genetic information as “perceived disability”: Chadam v. PAUSD

Chadam v. PAUSD, as previously covered on Genomics Law Report, is a case in which parents of a school boy are alleging that a school district violated their son’s rights when it made the decision that it would transfer the boy to another school because of his genetic information. Specifically, the allegation is that when the boy moved to the area and registered for school, (1) the school district learned of the boy’s genetic information related to cystic fibrosis, (2)  the boy was regarded as disabled by the school district, and (3) on the basis of this perceived disability, the school district decided to transfer the boy to another school to protect two other students at the school who have cystic fibrosis. The school district’s decision was apparently based on the idea that the boy, because of his genetic markers, posed a cross-infection risk to the students with cystic fibrosis. Individuals with cystic fibrosis, because their respiratory symptoms create host environments favorable to microbiological pathogens, are often separated from one another to minimize risk of spreading germs to one another. Mere carriers of the genetic markers associated with cystic fibrosis do not pose such cross-infection risks.

This case unequivocally does not involve GINA, a federal nondiscrimination statute that has very limited scope and does not protect individuals from discrimination in education. While the facts alleged could have supported a clear claim for violation of California’s genetic nondiscrimination statute, CalGINA, which affords broader protections than the federal statute, the attorney for the Chadams did not raise that claim. Instead, this case alleges violations of two federal antidiscrimination statutes, the Americans with Disabilities Act (ADA) and Section 504 of the Rehabilitation Act. Title II of the ADA requires public education to be free from discrimination, and Section 504 requires all federally funded programs and activities to be free from discrimination. Under both provisions, individuals cannot be excluded from participating in or enjoying the benefits of education because of disability. The statutes protect three basic classes of individuals: (1) those who have a disability (i.e., those who have a physical or mental condition that substantially limits a major life activity); (2) those with a history or record of having a disability; and (3) those with a perceived disability (i.e., those “regarded as” having a disability). (For more information, see A Guide to Disability Rights Laws published by the Civil Rights Division of the US Department of Justice)

The plaintiffs in Chadam have appealed the trial court’s decision to grant the school district’s motion to dismiss the case (a Rule 12(b)(6) motion). In granting the school district’s motion, the court basically decided that even if it assumed all of the facts alleged by the plaintiffs to be true and drew all reasonable inferences in favor of the plaintiffs, there would not be a valid claim upon which relief could be granted. On appeal, the United States Court of Appeals for the Ninth Circuit, which covers California, will focus on whether the district court erred in reaching that decision. The court of appeals will consider the motion de novo—that is, will give no deference to the trial court’s decision—and determine whether the facts alleged in the pleadings, when read in the light most favorable to the plantiffs, state a claim for relief that is plausible. The amicus brief filed by the United States (Department of Justice and Department of Education) urges the Ninth Circuit to reverse the district court’s decision and remand the case, stating that the plaintiffs have alleged sufficient facts to support a claim of intentional discrimination under Title II of the ADA and Section 504.

Is there judicial precedent for ADA protection of genetic information?

About 15 years ago, long before Congress passed the Genetic Information Nondiscrimination Act, there was a case in which individuals sought ADA protection from genetic discrimination. That case involved the Burlington Northern Santa Fe Railroad (BNSF), which allegedly had been using employees’ genetic information in connection with work-related carpal tunnel syndrome claims. The case was never decided by a court, however. In 2001 the Equal Employment Opportunity Commission (EEOC) and BNSF settled the EEOC’s request for injunctive relief to stop the company’s genetic testing, and in 2002 the EEOC and BNSF settled the request for damages with an agreement to compensate individuals with up to $2.2 million. While the settlement agreement was subject to approval by the Eastern District of Wisconsin (see 2002 WL 32155386), this case did not set judicial precedent that the ADA protects individuals from decisions based on genetic information.

Does the relevant legislative history suggest that individuals are protected from genetic discrimination because of “perceived disability”?

To answer this question, it is useful to start with legal scholar Mark Rothstein’s thorough 1992 analysis of the law regarding genetic discrimination and possible protection under the ADA as it existed at that time. See Mark A. Rothstein, Genetic Discrimination in Employment and the Americans with Disabilities Act, 29 Hous. L. Rev. 23 (1992).

In the early 1990s, in a letter to a Congressional committee chair, the EEOC actually rejected the idea that the ADA prohibits genetic discrimination against asymptomatic individuals, instead taking the position that the ADA would only protect an individual once the condition existed and symptoms were present. The EEOC’s technical assistance manual in 1992 also noted that genetic predisposition and family history are not “impairments” protected by the ADA. Nearly 10 years later, following the issuance of the Executive Order 13145 in 2000 that protects federal employees from genetic discrimination, the EEOC provided guidance indicating that instances of disparate treatment on the basis of genetic test results or family medical history would support a claim that an individual was “regarded as” having a disability and thus protected under the ADA and Rehabilitation Act.

As a matter of history, Congress and advocates alike did not believe that the ADA or Section 504 were sufficient to protect individuals from genetic nondiscrimination. In the statutory text of GINA, Congress found, “Federal law addressing genetic discrimination…is incomplete in both the scope and depth of its protections.” (PL 110-233, Finding 5).

To date, there are no direct cases on point deciding that genetic information is a “perceived disability” under the ADA and Section 504 or, conversely, ruling out that possibility.

What are the implications of this case?

Ultimately, a broad ruling in Chadam that genetic information alone is a sufficient basis to bring an action for “perceived disability” could dramatically expand individual genetic nondiscrimination protection—at least in the Ninth Circuit. Courts in other federal circuits would not be bound by a Ninth Circuit decision and could choose whether or not to follow it. That reality, combined with the strong public reactions to this case, suggests that Congress has important work to do to strengthen genetic nondiscrimination protections in education and other sectors of society currently not addressed directly by federal statutes.

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Filed under Genetic Testing/Screening, Genomic Policymaking, Genomics & Society, GINA, Pending Litigation

Australia revokes Myriad’s three patent claims on isolated BRCA1 DNA

genome sequenceIn a decision issued on October 7, 2015, the High Court of Australia (High Court) ruled unanimously in D’Arcy v. Myriad Genetics Inc., [2015] HCA 35, that three BRCA1 patent claims held by Myriad Genetics, Inc. under Australian Patent 686,004 were invalid. While Myriad’s patent had actually expired on August 11, 2015, the court decision set important precedent relevant to intellectual property in genetics/omics and precision medicine.

The D’Arcy case itself, along with other litigation in the U.S. involving Myriad’s gene patents, has been discussed previously on Genomics Law Report (See generally here). Mutations in the BRCA1 gene confer increased risk of breast and ovarian cancer. The Myriad scientists were first to clone and sequence BRCA1, the gene that Mary-Claire King had linked to cancer susceptibility in a landmark paper in Science in 1990. Myriad identified several BRCA1 mutations. Myriad’s Australian Patent 686,004 contains 30 separate claims. Yvonne D’Arcy challenged the validity of the first three claims in Myriad’s patent, which claimed the isolated BRCA1 sequences with mutations conferring increased risk of breast and ovarian cancer.
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Filed under Genetic Testing/Screening, Genomics & Medicine, Legal & Regulatory, Myriad Gene Patent Litigation, Patent Litigation, Patents & IP

Are Software Patents Dead?—Alice’s Implications for Life Sciences

Not too long ago, getting patents on software and business methods was all the rage. And concern about their effects was profound. In fact, in 2003 I spoke at a Federal Reserve Bank conference devoted to the question of whether such patents were an existential threat to the financial industry. Now, after a series of Supreme Court cases that brought about a dramatic shift in the approach taken by the lower courts and the Patent Office, the question is whether those patents are still alive. The answer is that they are, but barely, and their prognosis is bad.

Do these developments matter to people in the life sciences? The answer is a resounding yes. If we then ask why software patentability matters, the answer is that life sciences are increasingly focused on software-dependent data analysis.

These points were brought home to me when I spoke at another, more recent conference—the Bio-IT World Conference in Boston this past April.
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Filed under Bioinformatics/IT, Industry News, Legal & Regulatory, Patent Litigation, Patents & IP

Conley Q & A on LDTs and the FDA

FDA v LDTIn her recent post on the FDA’s draft guidance on its proposed oversight of Laboratory Developed Tests (LDTs), Jen Wagner mentioned my interview with Genome Web’s Turna Ray on January 15, 2015. Turna asked me to address some arguments made in a “white paper” written by former U.S. Solicitor General Paul Clement and Harvard law professor Laurence Tribe on behalf of their client, the American Clinical Laboratory Association. The main point that Clement and Tribe made was that the FDA lacks legal authority to oversee LDTs, at least in the way that it’s proposing to do so. As I told Turna, I don’t necessarily disagree with their position; in fact, I’m skeptical about the FDA’s authority to do this. Also, like Jen, I’m not persuaded the proposed FDA initiative is likely to work well from a practical perspective. Nonetheless, I agreed to play along in a devil’s advocate exercise, making the counterarguments I’d make if representing the FDA. Here’s a brief summary of my arguments:
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Filed under Badges, FDA LDT Regulation, Genetic Testing/Screening, Genomic Policymaking, Genomics & Medicine, Legal & Regulatory, Pending Regulation, Uncategorized